[MIM 619 290]

Very rare. Autosomal recessive transmission of a mutation (usually bilallelic inactivation) of the GCGR gene (17q25.3), coding for the glucagon receptor in the liver. This lack of glucagon receptor leads to reactive hyperplasia of pancreatic alpha cells and a pancreatic neuroendocrine tumor.

Clinical presentation:

-        most cases are diagnosed in adulthood

-        abdominal pain, pancreatitis, fatigue, diarrhea, diabetes mellitus

-        imaging: enlarged pancreas containing one or more tumors

-        sometimes presinusoidal portal hypertension without cirrhosis, with encephalopathy and esophageal varices, liver metastases

-        biology: hyperglucagonemia (>100 normal)

-        histology: pancreatic alpha-cell hyperplasia (microadenomas), neuroendocrine tumors and absence of glucagonoma.

Anesthetic implications:

diabetes, portal hypertension

References : 

-        Deng W, He M, Wang W, Xue H.
Gastrointestinal: Pancreatic NETs with GCGR heterozygous mutation: Mahvash disease.
Journal of Gastroenterology and Hepatology 2023; 38 :1243

-        Robbins J, Halegoua-DeMarzio D, Basu Mallick A, Vijayvergia N, Ganetzky R, Lavu H et al.
Liver transplantation in a woman with Mahvash disease.
N Engl J Med 2023; 389:1972-8

Updated: December 2023